The Race to Treat Rare, Fatal Syndrome May Help Others With Common Disorders Like Diabetes

Publication: science.org | Publication Date: February 11, 2021

Authors: Mitch Leslie

A Revealing Flaw: A rare disease that cripples a key cellular organelle holds clues to treating more common conditions.

Abstract

Maureen Marshall-Doss says the first sign that her vision was deteriorating came when she misidentified the color of a dress. At a backyard get-together about 20 years ago, the Indianapolis resident pointed out an attractive yellow dress another woman was wearing. “You see that as yellow? She’s wearing a pink dress,” Marshall-Doss recalls her husband responding.

Today, Marshall-Doss is virtually blind. With help from custom made eyeglasses that magnify objects 500 times, “I can see shapes,” she says. But she can no longer drive and had to quit the job she loved as a school librarian. Along with her dimming vision, she has type 1 diabetes and has lost her sense of taste and smell.

Marshall-Doss is one of 15,000 to 30,000 people around the world with Wolfram syndrome, a genetic disease. For decades, the condition remained enigmatic, untreatable, and fatal. But in the past few years, insights into its mechanism have begun to pay off, leading to the first clinical trials of drugs that might slow the illness and sparking hopes that gene therapy and the CRISPR DNA-editing tool might rectify the underlying genetic flaws. “Here is a rare disease that the basic science is telling us how to treat,” says physiologist Barbara Ehrlich of the Yale School of Medicine.

Leslie, M. (2021, February 11). A REVEALING FLAW A rare disease that cripples a key cellular organelle holds clues to treating more common conditions. science.org. Retrieved February 4, 2024, from https://www.science.org/content/article/race-treat-rare-fatal-syndrome-may-help-others-common-disorders-diabetes.